Distribution of FMR-1 and associated microsatellite alleles in a normal Chinese population

Journal Article · Fri Jul 15 04:00:00 EDT 1994 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/ajmg.1320510423· OSTI ID:62051

Zhong, N; Houck, Jr, G E; Li, S; Dobkin, C; Brown, W T ^[1]; Liu, Xixian; Gou, Shen ^[2]

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1. New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY (United States)
2. Tongji Medical Univ., Wuhan (China)

The CGG repeat size distribution of the fragile X mental retardation gene (FMR-1) was studied in a population of normal Chinese X chromosomes along with that of two proximal microsatellite polymorphic markers: FRAXAC1 and DXS548. The most common CGG repeat allele was 29 (47.2%) with 30 being second most common (26%). This distribution was different from that seen in Caucasian controls, where the most common allele was 30 repeats. Other differences with Caucasian controls included a secondary model peak at 36 repeats and the absence of peaks at 20 or 23 repeats. There were only two FRAXAC1 and five DXS548 alleles found in the Chinese sample. A striking linkage disequilibrium of FMR-1 alleles with FRAXAC1 alleles was observed, in that 90% of the 29 CGG repeat alleles but only 41% of the 30 CGG repeat alleles had the FRAXAC1 152 bp allele (18 AC repeats). This disequilibrium suggests that slippage between the closely spaced normal CGG repeat alleles, 29 and 30, and between 152 and 154 FRAXAC1 alleles is very rare. This study lays the groundwork for an understanding of founder chromosome effects in comparing Asian and Caucasian populations. 29 refs., 5 tabs.

• OSTI ID: 62051
• Journal Information: American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 4 Vol. 51; ISSN 0148-7299; ISSN AJMGDA
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
CHINA
CHROMOSOMAL ABERRATIONS
GENES
HEREDITARY DISEASES
HUMAN POPULATIONS
HUMAN X CHROMOSOME
MENTAL DISORDERS
PHENOTYPE
POLYMERASE CHAIN REACTION